Abstract
Duchenne muscular dystrophy (DMD) and the less severe Becker muscular dystrophy (BMD) are human X-linked muscle-wasting disorders that have been localized to the band Xp21 by genetic linkage analysis1–9 and cytologically detectable abnormalities10–12. A cloned DNA segment, DXS164 (or pERT87), has been shown to detect deletions in the DNA of unrelated DMD and BMD males13–15. Here we present the nucleotide sequence of two highly conserved DNA fragments from the DXS164 locus and their homologous sequences from the mouse X chromosome. One of the human conserved segments hybridized to a large transcript in RNA isolated from human fetal skeletal muscle and was used to isolate cDNA clones which cover approximately 10% of this transcript. The cDNA clones map to Xp21 and hybridize with a minimum of eight small regions that span 130 kilobases (kb) of the DXS164 locus. These expressed sequences are candidates for portions of the gene responsible for both DMD and BMD.
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References
Davies, K. E. et al. Nucleic Acids Res. 11, 2303–2312 (1983).
Aldridge, J. et al. Am. J. hum. Genet. 36, 546–564 (1984).
deMartinville, B. et al. Am. J. hum. Genet. 37, 235–249 (1985).
Bakker, E. et al. Lancet ii, 655–658 (1985).
Kingston, H. M. et al. Hum. Genet. 67, 6–17 (1984).
Brown, C. S. et al. Hum. Genet. 71, 62–74 (1985).
Dorkins, H. et al. Hum. Genet. 71, 103–107 (1985).
Fadda, S. et al. Hum. Genet. 71, 33–36 (1985).
Goodfellow, P. et al. Cytogenet. Cell Genet. 40, 296–352 (1985).
Boyd, Y. & Buckle, V. J. Clin. Genet. 29, 108–115 (1986).
Francke, U. et al. Am. J. hum. Genet. 37, 250–267 (1985).
Ray, P. N. et al. Nature 318, 672–675 (1985).
Kunkel, L. M. et al. Proc. natn. Acad. Sci. U.S.A. 82, 4778–4782 (1985).
Monaco, A. P. et al. Nature 316, 842–845 (1985).
Kunkel, L. M. et al. Nature 322, 73–77 (1986).
Frischauf, A. M. et al. J. molec. Biol. 170, 827–842 (1983).
Mount, S. M. Nucleic Acids Res. 10, 459–472 (1982).
Ruskin, B. et al. Cell 38, 317–331 (1984).
Keller, E. B. & Noon, N. A. Proc. natn. Acad. Sci. U.S.A. 81, 7417–7420 (1984).
Knott, T. J. et al. Science 230, 37–43 (1985).
Breitbart, R. E. et al. Cell 41, 67–82 (1985).
Michelson, A. M. et al. Proc. natn. Acad. Sci. U.S.A. 80, 472–476 (1983).
Gubler, U. & Hoffman, B. J. Gene 25, 263–269 (1983).
Young, R. A. & Davis, R. W. Science 222, 778–782 (1983).
Benton, W. D. & Davis, R. W. Science 196, 180–182 (1977).
Moser, H. Hum. Genet. 66, 17–40 (1984).
Fischbeck, K. et al. Lancet ii, 104 (1986).
Maniatis, T., Fritsch, E. F. & Sambrook, J. Molecular Cloning, a Laboratory Manual (Cold Spring Harbor Laboratory, New York, 1982).
Bolivar, F. et al. Gene 2, 95–113 (1977).
Vierra, J. & Messing, J. Gene 19, 259 (1982).
Southern, E. M. J. molec. Biol. 98, 503–517 (1975).
Bruns, G. A. P. et al. Adv. exp. Med. Biol. 154, 60–72 (1982).
Sanger, F. et al. Proc. natn. Acad. Sci. U.S.A. 74, 5463–5467 (1977).
Thomas, P. S. Proc. natn. Acad. Sci. U.S.A. 77, 5201–5205 (1980).
Chirgwin, J. M. et al. Biochemistry 18, 5294–5299 (1979).
Aviv, H. & Leder, P. Proc. natn. Acad. Sci. U.S.A. 69, 1408–1412 (1972).
Singer, M. F. Cell 28, 433–434 (1982).
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Monaco, A., Neve, R., Colletti-Feener, C. et al. Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature 323, 646–650 (1986). https://doi.org/10.1038/323646a0
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DOI: https://doi.org/10.1038/323646a0
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